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AVSD
MCID: ATR001
MIFTS: 55

Atrioventricular Septal Defect (AVSD)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Atrioventricular Septal Defect

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MalaCards integrated aliases for Atrioventricular Septal Defect:

Name: Atrioventricular Septal Defect 56 12 74 52 58 36 29 54 6 15 32
Atrioventricular Canal Defect 56 12 58
Avsd 56 12 58
Atrioventricular Septal Defect, Susceptibility to, 1 56 13
Endocardial Cushion Defect 56 12
Avcd 56 12
Ecd 56 12
Atrioventricular Canal Defect; Avcd 56
Atrioventricular Septal Defect 1 56
Endocardial Cushion Defect; Ecd 56
Septal Defect, Atrioventricular 39
Endocardial Cushion Defects 43
Avc Defect 56

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Cardiovascular diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050651
OMIM 56 606215
OMIM Phenotypic Series 56 PS606215
KEGG 36 H00547
ICD9CM 34 745.6 745.60
MeSH 43 D004694
SNOMED-CT 67 15459006
ICD10 32 Q21.2
ICD10 via Orphanet 33 Q21.2
UMLS via Orphanet 72 C1389016 C1389018
Orphanet 58 ORPHA98722
MedGen 41 C1389016
UMLS 71 C0014116
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Summaries for Atrioventricular Septal Defect

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OMIM : 56 The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). (606215)

MalaCards based summary : Atrioventricular Septal Defect, also known as atrioventricular canal defect, is related to atrioventricular septal defect 4 and partial atrioventricular canal. An important gene associated with Atrioventricular Septal Defect is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are cardiovascular system and cellular

Disease Ontology : 12 A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

KEGG : 36 Atrioventricular septal defect, also known as atrioventricular canal defect or endocardial cushion defect, is a congenital heart malformation involving the interatrial septum, interventricular septum, and atrioventricular valves. The defect is often associated with Down syndrome (trisomy 21).

Wikipedia : 74 Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as "common... more...

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Related Diseases for Atrioventricular Septal Defect

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Diseases in the Atrioventricular Septal Defect family:

Atrioventricular Septal Defect 3 Atrioventricular Septal Defect 2
Atrioventricular Septal Defect 4 Atrioventricular Septal Defect 5

Diseases related to Atrioventricular Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 351)
# Related Disease Score Top Affiliating Genes
1 atrioventricular septal defect 4 35.2 LOC110121280 GATA4
2 partial atrioventricular canal 33.9 GATA6 GATA4 CRELD1
3 right atrial isomerism 33.3 TBX5 TBX20 NKX2-5 GDF1 CFC1
4 ventricular septal defect 1 33.0 GATA4 AVSD1
5 atrial septal defect 2 32.8 TBX20 NKX2-5 GATA4
6 heart septal defect 31.9 TBX5 TBX20 NKX2-5 GJA1 GATA6 GATA4
7 complete atrioventricular canal-left heart obstruction syndrome 31.7 GATA4 CRELD1
8 complete atrioventricular canal-ventricle hypoplasia syndrome 31.7 GATA6 GATA4 CRELD1
9 complete atrioventricular canal-tetralogy of fallot syndrome 31.7 GATA4 CRELD1
10 atrioventricular block 31.5 TBX5 NKX2-5 GJA1 GATA4
11 double outlet right ventricle 31.2 TBX5 TBX20 NKX2-5 GDF1 GATA6 GATA4
12 ventricular septal defect 31.2 TBX5 TBX20 NKX2-5 NFATC1 GDF1 GATA6
13 dextro-looped transposition of the great arteries 31.0 TBX5 NKX2-5 GDF1 GATA4 CRELD1 CFC1
14 eisenmenger syndrome 30.9 NKX2-5 GATA4 EDN1
15 sinoatrial node disease 30.9 TBX5 NKX2-5 GJA1
16 tetralogy of fallot 30.9 TBX5 TBX20 NKX2-5 GJA1 GDF1 GATA6
17 tricuspid atresia 30.8 TBX5 TBX20 NKX2-5 GATA4
18 atrial septal defect 5 30.7 TBX5 TBX20 NKX2-5
19 pulmonary valve stenosis 30.6 TBX5 NKX2-5 GATA4 CFC1
20 ebstein anomaly 30.6 TBX5 TBX20 NKX2-5 GATA4
21 atrial heart septal defect 30.6 TBX5 TBX20 NKX2-5 GJA1 GATA6 GATA4
22 aortic valve disease 2 30.6 TBX5 NKX2-5 GATA4 ELN
23 wolff-parkinson-white syndrome 30.5 TBX5 TBX20 NKX2-5 GJA1
24 left ventricular noncompaction 30.4 TBX5 TBX20 NKX2-5 GATA4
25 charge syndrome 30.4 TBX5 TBX20 CHD7
26 orthostatic intolerance 30.4 TBX5 TBX20 ELN EDN1
27 patent ductus arteriosus 1 30.4 TBX5 TBX20 NKX2-5 GATA6 GATA4 ELN
28 digeorge syndrome 30.3 TBX5 TBX20 NKX2-5 GATA4 CHD7
29 holt-oram syndrome 30.3 TBX5 TBX20 NKX2-5 GATA4 CRELD1 CFC1
30 dilated cardiomyopathy 30.0 TBX5 TBX20 NKX2-5 GJA1 GATA6 GATA4
31 aortic valve disease 1 29.8 TBX5 TBX20 NKX2-5 NFATC1 GDF1 GATA6
32 hypoplastic left heart syndrome 29.8 TBX5 TBX20 NKX2-5 GJA1 GATA6 GATA4
33 heart disease 29.2 TBX5 TBX20 NKX2-5 NFATC1 GJA1 GATA6
34 atrioventricular septal defect 5 12.9
35 atrioventricular septal defect 2 12.9
36 atrioventricular septal defect 3 12.9
37 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.5
38 atrioventricular septal defect with blepharophimosis and anal and radial defects 12.5
39 erdheim-chester disease 12.3
40 complete atrioventricular canal 12.1
41 ritscher-schinzel syndrome 1 11.8
42 ellis-van creveld syndrome 11.7
43 8p23.1 duplication syndrome 11.7
44 atrial septal defect 7 with or without atrioventricular conduction defects 11.6
45 hemifacial atrophy, progressive 11.6
46 atrial heart septal defect 7 11.5
47 split-hand/foot malformation 1 11.4
48 chromosome 3pter-p25 deletion syndrome 11.4
49 chromosome 8p23.1 deletion 11.4
50 heterotaxy, visceral, 4, autosomal 11.4

Graphical network of the top 20 diseases related to Atrioventricular Septal Defect:



Diseases related to Atrioventricular Septal Defect
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Symptoms & Phenotypes for Atrioventricular Septal Defect

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Clinical features from OMIM:

606215

MGI Mouse Phenotypes related to Atrioventricular Septal Defect:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 CHD7 CRELD1 EDN1 GATA4 GATA6 GDF1
2 cellular MP:0005384 10.27 CHD7 CRELD1 EVC EVC2 GATA4 GATA6
3 growth/size/body region MP:0005378 10.25 CHD7 EDN1 EVC EVC2 GATA4 GATA6
4 mortality/aging MP:0010768 10.24 CHD7 CRELD1 EDN1 EVC EVC2 GATA4
5 embryo MP:0005380 10.2 CHD7 CRELD1 EDN1 GATA4 GATA6 GDF1
6 craniofacial MP:0005382 10.13 CHD7 CRELD1 EDN1 EVC EVC2 GDF1
7 limbs/digits/tail MP:0005371 10.01 CHD7 EVC EVC2 GATA4 GATA6 GJA1
8 muscle MP:0005369 9.97 CHD7 EDN1 GATA4 GATA6 GJA1 NFATC1
9 normal MP:0002873 9.85 EDN1 EVC2 GATA4 GATA6 GDF1 GJA1
10 no phenotypic analysis MP:0003012 9.8 GATA4 GJA1 NFATC1 NKX2-5 NR1D2 SMARCAL1
11 respiratory system MP:0005388 9.5 CHD7 GATA4 GATA6 GDF1 GJA1 NFATC1
12 skeleton MP:0005390 9.32 CHD7 EDN1 EVC EVC2 GATA4 GDF1
Sources

Drugs & Therapeutics for Atrioventricular Septal Defect

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Drugs for Atrioventricular Septal Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 3 1401-55-4
2
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
3
Enalaprilat Approved Phase 3 76420-72-9 6917719
4
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
5
protease inhibitors Phase 3
6 Antihypertensive Agents Phase 3
7 HIV Protease Inhibitors Phase 3
8 Angiotensin-Converting Enzyme Inhibitors Phase 3
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
10
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
11
Sodium citrate Approved, Investigational Phase 2 68-04-2
12
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
13
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
14 Analgesics, Non-Narcotic Phase 2
15 Analgesics Phase 2
16 Narcotics Phase 2
17 Adrenergic alpha-2 Receptor Agonists Phase 2
18 Citrate Phase 2
19 Neurotransmitter Agents Phase 2
20 Anesthetics Phase 2
21 Adjuvants, Anesthesia Phase 2
22 Analgesics, Opioid Phase 2
23 Hypnotics and Sedatives Phase 2
24 Chelating Agents Phase 2
25 Anesthetics, General Phase 2
26 Central Nervous System Depressants Phase 2
27 Adrenergic Agonists Phase 2
28 Anticoagulants Phase 2
29 Anesthetics, Intravenous Phase 2
30 Calcium, Dietary Phase 2
31 Adrenergic Agents Phase 2
32 Plasma Substitutes Phase 2
33 Dextrans Phase 2
34 Blood Substitutes Phase 2
35 Pharmaceutical Solutions Phase 2
36
Nitric Oxide Approved Phase 1 10102-43-9 145068
37 Antiviral Agents Phase 1
38 Anti-Infective Agents Phase 1
39 carnitine Phase 1
40
Acetaminophen Approved 103-90-2 1983
41 Antipyretics

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Triostat in Children During CardioPulmonary Bypass (CPB) Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
2 A Phase III Single-Blind, Randomized, Placebo Controlled, Clinical Trial to Determine the Safety and Efficacy of Intravenous L-Citrulline Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT00335244 Phase 3 L-citrulline;Placebo of intravenous L-citrulline
3 A Phase III Double-Blind, Randomized, Placebo Controlled, Multi-Center Clinical Study to Evaluate the Efficacy and Safety of Intravenous L-citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Subjects Undergoing Surgery for Congenital Heart Defects Active, not recruiting NCT02891837 Phase 3 L-citrulline
4 Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD Terminated NCT00113698 Phase 3 Enalapril
5 Phase IB Double Blind, Randomized, Placebo Controlled Clinical Trial to Determine the Pharmacokinetics and Safety of a Revised Protocol of Intravenous L-Citrulline (Citrupress®) Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
6 Stress Response in Children Undergoing Cardiac Surgery: a Prospective Randomized Comparison Between Low Dose Fentanyl (LDF), Low Dose Fentanyl Plus Dexmedetomidine (LDF + Dex) and High Dose Fentanyl (HDF). Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
7 The Use of Hypertonic Saline Dextran in Cardiac Surgery Utilizing Cardio Pulmonary Bypass in Children Less Than 17 Weeks Old. Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
8 Phase I/II Clinical Trial to Determine the Pharmacokinetics and Safety Profile of Citrulline in Children Undergoing Cardiopulmonary Bypass Completed NCT00201214 Phase 1, Phase 2 Citrulline
9 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Recruiting NCT04017975 Phase 2 Fluorescite
10 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
11 A Phase I C Clinical Study With Influenza Antiviral DAS181-F03: Double-Blind, Randomized, Placebo-Controlled, Single Dose and Multiple Dose Escalation Study in Healthy Adults Completed NCT01173224 Phase 1 Placebo;DAS181
12 Phase 1 Study of the Safety and Pharmacokinetics of Perioperative IV L-carnitine Administration in Patients With Congenital Heart Disease With Increased Pulmonary Blood Flow Active, not recruiting NCT01825369 Phase 1 IV L-carnitine
13 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
14 Does Preoperative Acetaminophen Reduce Biochemical Markers of Oxidative Stress From Cardiopulmonary Bypass? Completed NCT01228305
15 Family Study of Congenital Cardiovascular Malformations Completed NCT00005258
16 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
17 Biventricular Pacing in Children With Wide QRS After Surgery for Congenital Heart Disease Completed NCT02644824
18 Congenital Heart Disease (CHD): Hemodynamic Effects of Acute Maternal Hyperoxygenation in the Fetus Recruiting NCT03944837
19 Do Cerebral and Renal Saturations Measured With Near-infrared Spectroscopy Correlate With Echocardiographic Markers of Perfusion and Cardiac Performance in Congenital Heart Disease? Not yet recruiting NCT04106479
20 Optimal Timing for Repair of Left-to-Right Shunt Lesions Terminated NCT00229827
21 Retrospective Review of Children and Adolescents Receiving Mechanical and Prosthetic Valves in the Aortic and Mitral Position 1976-2002 Terminated NCT00268008

Search NIH Clinical Center for Atrioventricular Septal Defect

Cochrane evidence based reviews: endocardial cushion defects

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Genetic Tests for Atrioventricular Septal Defect

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Genetic tests related to Atrioventricular Septal Defect:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 29
Sources

Anatomical Context for Atrioventricular Septal Defect

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MalaCards organs/tissues related to Atrioventricular Septal Defect:

40
Heart, Lung, Brain, Kidney, Thyroid, Breast, Skin
Sources

Publications for Atrioventricular Septal Defect

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Articles related to Atrioventricular Septal Defect:

(show top 50) (show all 1317)
# Title Authors PMID Year
1
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. 61 56
25996639 2016
2
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. 61 56
23040494 2012
3
Atrioventricular septal defect: from fetus to adult. 61 56
17105897 2006
4
A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21. 61 56
8250042 1993
5
Dominant-negative ALK2 allele associates with congenital heart defects. 56
19506109 2009
6
Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. 56
9002679 1997
7
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p. 56
7677156 1995
8
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. 56
8112730 1994
9
Risk of congenital heart defects in relatives of patients with atrioventricular canal. 56
8249947 1993
10
Atrioventricular canal and 8p- syndrome. 56
8135296 1993
11
Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence. 56
1534968 1992
12
Evidence of congenital heart disease in the offspring of parents with atrioventricular defects. 56
6824534 1983
13
The recurrence risk in congenital heart disease. 56
668753 1978
14
Etiologic factors in congenital heart diseases. 56
5138391 1971
15
TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts. 54 61
15221798 2004
16
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. 54 61
15161646 2004
17
Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011. 61
31454511 2020
18
Severe regurgitation of a double-orifice left atrioventricular valve in a patient with repaired atrioventricular septal defect: added value of 3D echocardiography. 61
32025710 2020
19
Early and midterm outcomes of a modified single-patch technique for repairing complete atrioventricular septal defect in children and adults. 61
31692110 2020
20
Outcomes of Multistage Palliation of Infants With Single Ventricle and Atrioventricular Septal Defect. 61
31835983 2020
21
Modified Single Repair Technique for Complete Atrioventricular Septal Defect: A Propensity Score Matching Analysis. 61
31974717 2020
22
Rare Association Between Atrioventricular Septal Defect and Partial Anomalous Pulmonary Venous Connection. 61
31364828 2020
23
Outcome of ACHD patients with non-inducible versus inducible IART undergoing cavo-tricuspid isthmus ablation: the role of empiric ablation. 61
31997041 2020
24
Outcomes of Supra-annular Mechanical Atrioventricular Valve Replacement with Polytetrafluoroethylene Graft in Infants and Children. 61
31894395 2020
25
Left bundle branch pacing, the only feasible physiological pacing modality for a patient with complete atrioventricular septal defect after surgical correction. 61
31670426 2019
26
Denoising and artefact removal for transthoracic echocardiographic imaging in congenital heart disease: utility of diagnosis specific deep learning algorithms. 61
31325067 2019
27
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with high nuchal translucency, tricuspid regurgitation and abnormal flow in the ductus venosus. 61
31875326 2019
28
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations. 61
31493343 2019
29
National population-based estimates for major birth defects, 2010-2014. 61
31580536 2019
30
The Pediatric Heart Network Residual Lesion Score Study: Design and Objectives. 61
31870553 2019
31
A Study of Mortality in Cardiac Patients in a Pediatric Intensive Care Unit. 61
31827987 2019
32
Ivabradine as an Adjunct for Refractory Junctional Ectopic Tachycardia Following Pediatric Cardiac Surgery: A Preliminary Study. 61
31701840 2019
33
A new method for atrioventricular valve repair in atrioventricular septal defect. 61
31778644 2019
34
Case 6/2019 - Total Atrioventricular Septal Defect, 12 Years After Operative Correction, No Residual Defects. 61
31800726 2019
35
Optimizing Venous Drainage for Minimal Access Right Atrial Procedures. 61
31185204 2019
36
Utility of expert focused cardiac ultrasound in paediatric cardiology outreach clinics. 61
31735194 2019
37
TAMM41 is required for heart valve differentiation via regulation of PINK-PARK2 dependent mitophagy. 61
30824836 2019
38
Risk of congenital heart defects in offspring exposed to maternal diabetes mellitus: an updated systematic review and meta-analysis. 61
31713644 2019
39
Commentary: Pulmonary artery banding in infants with atrioventricular septal defect, valid strategy or backward move? 61
31761350 2019
40
The Effect of Levosimendan Versus Milrinone on the Occurrence Rate of Acute Kidney Injury Following Congenital Heart Surgery in Infants: A Randomized Clinical Trial. 61
31274775 2019
41
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. 61
31408229 2019
42
Ellis-van Creveld syndrome in a patient from Tanzania. 61
31350806 2019
43
Pulmonary artery banding in complete atrioventricular septal defect. 61
31669019 2019
44
Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico. 61
31321895 2019
45
Prevalence of Culture-Negative Fever in Infants With Down Syndrome Undergoing Cardiac Surgery. 61
31496410 2019
46
Contemporary epidemiology of infective endocarditis in patients with congenital heart disease: A UK prospective study. 61
31299559 2019
47
Indian guidelines for indications and timing of intervention for common congenital heart diseases: Revised and updated consensus statement of the Working group on management of congenital heart diseases. 61
31516283 2019
48
Double orifice and atrioventricular septal defect: dealing with the zone of apposition†. 61
30897200 2019
49
Modified Single-Patch versus Two-Patch Repair for Atrioventricular Septal Defect: A Systematic Review and Meta-Analysis. 61
31496417 2019
50
Prediction of biventricular repair by echocardiography in borderline ventricle. 61
31348032 2019
Sources

Variations for Atrioventricular Septal Defect

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ClinVar genetic disease variations for Atrioventricular Septal Defect:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCAL1 NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter)SNV Pathogenic 374208 rs748106387 2:217280150-217280150 2:216415427-216415427
2 SMARCAL1 NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter)SNV Pathogenic 4171 rs119473033 2:217342939-217342939 2:216478216-216478216
3 TBX5 NM_000192.3(TBX5):c.404T>G (p.Leu135Arg)SNV Likely pathogenic 375289 rs1057519050 12:114836484-114836484 12:114398679-114398679
4 NR1D2 NM_005126.5(NR1D2):c.523C>T (p.Arg175Trp)SNV Likely pathogenic 690345 3:24003473-24003473 3:23961982-23961982
5 ELN NM_000501.4(ELN):c.328G>A (p.Ala110Thr)SNV Conflicting interpretations of pathogenicity 360636 rs137953195 7:73457316-73457316 7:74042986-74042986
6 CHD7 NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)SNV Uncertain significance 800492 8:61765250-61765250 8:60852691-60852691
7 FOXP1 NM_032682.5(FOXP1):c.1702C>T (p.Pro568Ser)SNV Benign/Likely benign 55847 rs147674680 3:71019907-71019907 3:70970756-70970756
Sources

Expression for Atrioventricular Septal Defect

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Search GEO for disease gene expression data for Atrioventricular Septal Defect.
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Pathways for Atrioventricular Septal Defect

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Pathways related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.07 TBX5 NKX2-5 GATA4 CFC1
2
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.58 TBX5 NKX2-5 GJA1 GATA4
3
Transcriptional Regulatory Network in Embryonic Stem Cell 63
11.17 NFATC1 GATA6 GATA4
4
Cardiac Progenitor Differentiation 1
10.98 TBX5 TBX20 NKX2-5 GATA4
5
Heart Development 1
10.76 TBX5 TBX20 NKX2-5 NFATC1 GATA6 GATA4
6
Cardiomyocyte Differentiation through BMP Receptors 63
10.75 NKX2-5 GATA4
7
HOP Signaling 63
10.03 NKX2-5 GATA4
Sources

GO Terms for Atrioventricular Septal Defect

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Cellular components related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 9.33 NR1D2 NKX2-5 GATA4
2 nuclear chromatin GO:0000790 9.23 TBX5 TBX20 NR1D2 NKX2-5 NFATC1 GATA6
3 plasma membrane protein complex GO:0098797 8.96 EVC2 EVC

Biological processes related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.11 TBX5 TBX20 NR1D2 NKX2-5 NFATC1 GATA6
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.07 TBX5 TBX20 NR1D2 NKX2-5 GATA6 EDN1
3 negative regulation of transcription, DNA-templated GO:0045892 10.02 TBX20 NR1D2 NKX2-5 GATA6 FOXP1
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 TBX5 TBX20 NR1D2 NKX2-5 NFATC1 GATA6
5 positive regulation of transcription, DNA-templated GO:0045893 9.95 TBX5 TBX20 NR1D2 NKX2-5 NFATC1 GATA6
6 cell-cell signaling GO:0007267 9.88 TBX5 GJA1 GATA4 EDN1
7 heart development GO:0007507 9.88 TBX5 NKX2-5 GJA1 EDN1 CFC1
8 heart looping GO:0001947 9.73 TBX20 NKX2-5 GATA4
9 outflow tract morphogenesis GO:0003151 9.72 TBX20 NKX2-5 ELN
10 positive regulation of cardiac muscle cell proliferation GO:0060045 9.71 TBX5 TBX20 GATA6
11 blood circulation GO:0008015 9.7 TBX20 ELN CHD7
12 outflow tract septum morphogenesis GO:0003148 9.67 TBX20 NKX2-5 GATA6
13 negative regulation of cardiac muscle cell proliferation GO:0060044 9.64 TBX5 GJA1
14 embryonic heart tube development GO:0035050 9.63 TBX20 NKX2-5
15 cardiac septum development GO:0003279 9.63 TBX20 CRELD1
16 ventricular trabecula myocardium morphogenesis GO:0003222 9.62 NKX2-5 CHD7
17 cardiac muscle tissue morphogenesis GO:0055008 9.61 TBX20 NKX2-5
18 adult heart development GO:0007512 9.61 NKX2-5 CHD7
19 cardiac muscle tissue development GO:0048738 9.61 NKX2-5 GATA6 GATA4
20 cardiac right ventricle morphogenesis GO:0003215 9.6 TBX20 GATA4
21 cardiac ventricle morphogenesis GO:0003208 9.58 NKX2-5 GATA4
22 intestinal epithelial cell differentiation GO:0060575 9.57 GATA6 GATA4
23 aortic valve morphogenesis GO:0003180 9.56 TBX20 NFATC1 GATA4 ELN
24 endocardial cushion development GO:0003197 9.54 TBX5 GATA4 CRELD1
25 bundle of His development GO:0003166 9.51 TBX5 NKX2-5
26 cardiac muscle cell differentiation GO:0055007 9.46 TBX5 NKX2-5 GATA6 GATA4
27 atrial septum morphogenesis GO:0060413 9.26 TBX5 TBX20 NKX2-5 GATA4
28 positive regulation of cardioblast differentiation GO:0051891 8.92 TBX5 NKX2-5 GATA6 GATA4

Molecular functions related to Atrioventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.11 TBX5 TBX20 NR1D2 NKX2-5 NFATC1 GATA6
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.86 TBX5 TBX20 NR1D2 NKX2-5 NFATC1 GATA6
3 sequence-specific DNA binding GO:0043565 9.85 TBX5 NR1D2 NKX2-5 GATA6 GATA4 FOXP1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.83 TBX5 TBX20 NKX2-5 NFATC1 GATA4
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.72 TBX5 TBX20 NR1D2 NFATC1 GATA4
6 transcription factor binding GO:0008134 9.63 TBX5 NR1D2 NKX2-5 NFATC1 GATA6 GATA4
7 RNA polymerase II transcription factor binding GO:0001085 9.58 TBX20 NFATC1 GATA4
8 DNA-binding transcription factor activity GO:0003700 9.56 TBX5 TBX20 NR1D2 NKX2-5 NFATC1 GATA6
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.23 TBX5 TBX20 NR1D2 NKX2-5 NFATC1 GATA6
Sources

Sources for Atrioventricular Septal Defect

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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